A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11969349



Internal ID2147996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:87984160..88069969hg38UCSC Ensembl
chr5:87279977..87365786hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3885810
hg1985810
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605733
Supporting Variants
SamplesHG01945
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11969349
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer